Search Results - Maria Haanpaa

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    Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome by Maria Arvio, Maria Haanpää, Pia Pohjola, Jaana Lähdetie

    Published in Clinical Case Reports (2021-08-01)
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  2. 2

    P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targ... by Guillaume Jouret, Dominik Brado, Jeroen Breckpot, Davide Vecchio, Mélanie Fradin, Irene Valenzuala, Paula Fernandez, Nuria Martinez, Fabio Sirchia, Alessandro Mussa, Federico Fornari, Jacqueline Aziza, Maria Isis Atallah Gonzalez, Fanny Laffargue, Gueneret Michele, Adela Chirita, Mathilde Nizon, Philippe Khau Van Kien, Francesca Mari, Anna Carrer, Maria Haanpaa, Caroline Rooryck-Thambo, Claire Beneteau, Jean-Baptiste Ichtertz, Marie Bournez, Juliette Dupont, Atilano Carcavilla, Lucia Deiros, Emikarina Rikeros, Maria De Los Angeles Gomez, Maude Grelet, Laetitia Lambert, Lucas Hérissant, Viorica Ciorna, Arthur Sorlin, Rodolphe Dard, Abdelkader Heddar, Jean-Paul Hermand, Didier Menzies

    Published in Genetics in Medicine Open (2025-01-01)
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